Linked Data
ClinVar Variation Id:
2068474
dbSNP Id:
rs764944681
ExAC:
16:3778118 C / A
gnomAD v2:
16-3778118-C-A
gnomAD v3:
16-3728117-C-A
gnomAD v4:
16-3728117-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728117C>A , CM000678.2:g.3728117C>A | GRCh38 |
| NC_000016.9:g.3778118C>A , CM000678.1:g.3778118C>A | GRCh37 |
| NC_000016.8:g.3718119C>A | NCBI36 |
| NG_009873.1:g.157004G>T | |
| NG_009873.2:g.157597G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6930G>T MANE Select | ENSP00000262367.5:p.Gln2310His | |
| ENST00000262367.9:c.6930G>T | ENSP00000262367.5:p.Gln2310His | |
| ENST00000382070.7:c.6816G>T | ENSP00000371502.3:p.Gln2272His | |
| NM_001079846.1:c.6816G>T | NP_001073315.1:p.Gln2272His | |
| NM_004380.2:c.6930G>T | NP_004371.2:p.Gln2310His | |
| XM_005255124.3:c.6885G>T | XP_005255181.1:p.Gln2295His | |
| XM_005255125.3:c.6513G>T | XP_005255182.1:p.Gln2171His | |
| XM_006720848.2:c.6669G>T | XP_006720911.1:p.Gln2223His | |
| XM_011522380.1:c.6876G>T | XP_011520682.1:p.Gln2292His | |
| XM_011522381.1:c.6177G>T | XP_011520683.1:p.Gln2059His | |
| XM_005255124.4:c.6885G>T | XP_005255181.1:p.Gln2295His | |
| XM_005255125.4:c.6513G>T | XP_005255182.1:p.Gln2171His | |
| XM_006720848.3:c.6669G>T | XP_006720911.1:p.Gln2223His | |
| XM_011522381.2:c.6177G>T | XP_011520683.1:p.Gln2059His | |
| XM_017022944.1:c.6924G>T | XP_016878433.1:p.Gln2308His | |
| NM_004380.3:c.6930G>T MANE Select | NP_004371.2:p.Gln2310His |